Reviewed, UniProtKB/Swiss-Prot Q99MY8 (ASH1L_MOUSE)

Names and origin

Protein names

Recommended name:
    Probable histone-lysine N-methyltransferase ASH1L
    EC=2.1.1.43
Alternative name(s):
    Absent small and homeotic disks protein 1 homolog
    ASH1-like protein

Gene names

Name:

Ash1l

Organism

Mus musculus (Mouse)

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus

Protein attributes

Sequence length	2958 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Histone methyltransferase. Probably methylates 'Lys-4' of histone H3, a specific tag for epigenetic transcriptional activation By similarity.
Catalytic activity	S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N(6)-methyl-L-lysine.
Subcellular location	Nucleus By similarity. Cell junction › tight junction By similarity. Note: The relevance of tight junction localization is however unclear By similarity.
Sequence similarities	Belongs to the histone-lysine methyltransferase family. SET2 subfamily. Contains 3 A.T hook DNA-binding domains. Contains 1 AWS domain. Contains 1 BAH domain. Contains 1 bromo domain. Contains 1 PHD-type zinc finger. Contains 1 post-SET domain. Contains 1 SET domain.
Sequence caution	The sequence AAK26242.1 differs from that shown. Reason: Miscellaneous discrepancy. Chimeric cDNA.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Cell junction Nucleus Tight junction
Domain	Bromodomain Repeat Zinc-finger
Ligand	Metal-binding Zinc
Molecular function	Activator Chromatin regulator Methyltransferase Transferase
PTM	Isopeptide bond Phosphoprotein Ubl conjugation
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	chromatin modification Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription Inferred from electronic annotation. Source: UniProtKB-KW transcription Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell tight junction Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	DNA binding Inferred from electronic annotation. Source: InterPro histone-lysine N-methyltransferase activity Inferred from electronic annotation. Source: EC protein binding Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2958	2958	Probable histone-lysine N-methyltransferase ASH1L		PRO_0000259517
Regions
	Domain	2081 – 2132	52	AWS
	Domain	2134 – 2255	122	SET
	Domain	2259 – 2275	17	Post-SET
	Domain	2452 – 2522	71	Bromo
	Domain	2650 – 2787	138	BAH
	DNA binding	885 – 897	13	A.T hook 1
	DNA binding	1345 – 1357	13	A.T hook 2
	DNA binding	1843 – 1855	13	A.T hook 3
	Zinc finger	2574 – 2620	47	PHD-type
	Compositional bias	1378 – 1422	45	Pro-rich
	Compositional bias	1555 – 1787	233	Ser-rich
Amino acid modifications
	Modified residue	22	1	Phosphoserine By similarity
	Modified residue	1678	1	Phosphoserine By similarity
	Cross-link	400		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
	Cross-link	404		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Experimental info
	Sequence conflict	331	1	L → M in BAC40390. Ref.1
	Sequence conflict	711 – 714	4	RKGR → EKEE in AAK26242. Ref.3
	Sequence conflict	1073	1	K → Q in BAE32182. Ref.1
	Sequence conflict	1095	1	V → A in BAE32182. Ref.1
	Sequence conflict	1994	1	S → Y in BAE32182. Ref.1
	Sequence conflict	2656	1	H → D in AAH52194. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q99MY8-1 [UniParc]. Last modified October 31, 2006. Version 2. Checksum: 6D0AC2CAC5691929	FASTA	2,958	331,307
	10 20 30 40 50 60 MDPRNTAMLG LGSDSEGFSR KSPSTINPGT LASKREAEIE GATEEEDPRK RNRERGTEAG 70 80 90 100 110 120 KEDGSTDAQQ QFSVKETNFS EGNLKLKIGL QAKRTKKPPK NLENYVCRPA IKTTIKHSRK 130 140 150 160 170 180 ALKSGKMTDE KNEHCPSKWD SSKLFKKAGD ATAIDCQAEE SIHLHSQGES NPLSKKLSPV 190 200 210 220 230 240 HSQMADYISA APSLVGSRDP DIKDRALLNG GTSVTEKLAQ LIATCPPSKS SKAKPKKLGT 250 260 270 280 290 300 GTTVGLVSKD LIRKPGVGSI AGIIHKDLIK KPALSTAVGL VTKDPGKKPM FNAAVGLINK 310 320 330 340 350 360 DSVKKLGTGT TAVFINKDLG KKPGAITTVG LLSKESGKKL GIGIVPGLVN KESGKKLGLG 370 380 390 400 410 420 TVVGLVNKEL GKKLSSTVGL VAKDVTKKIV ASSAMGLVNK DIGKKLLNCP MAGQLGSKDA 430 440 450 460 470 480 LNLKSEALLP TQEQLKASCS ANISNHDSQE LPESLKDSAT GKAFEKSVMR HSKESMLEKF 490 500 510 520 530 540 SVRKEITNLE KEMFNEGTCI QQDNFSSSER GAFETSKHEK QPPVYCTSPD FQIGGASDAS 550 560 570 580 590 600 TAKSPFSAVG ESNLPSSSPT VSVNPVTRSP PEASSQLVPN PLLLNSTAEQ MEEISESIGK 610 620 630 640 650 660 SQFTAESTHL NVGHRSLGHS LSIECKGIDK ELNESKNTHL DIPRISSSLG KKPSLTSDSG 670 680 690 700 710 720 IHAITPSVVN FTSLFSNKPF LKLGAVTAPD KHCQVAESLS SSFQSKPLKK RKGRKPRWTK 730 740 750 760 770 780 VVARSTCRSP KGLDLERSEL FKNVSCSSLS NSSEPAKFMK TIGASSFVDH DFLKRRLPKL 790 800 810 820 830 840 SKSSAPSLAL LTDSEKPSHK SFITHKLSSS MCVTSDLLSD IYKPKRGRPK SKEMPQLEGP 850 860 870 880 890 900 PKRTLKIPAS KVFSLQSKEE QEPPILQPEI EIPSFKQSLS VSPFPKKRGR PKRQMRSPVK 910 920 930 940 950 960 MKPPVLSVAP FVATESPSKL ESESENHRSS SDFFESEDQL QDTDDLDDSH RQSVCSMSDL 970 980 990 1000 1010 1020 EMEPDKKISK RNNGQLMKTI IRKINKMKTL KRKKLLNQIL SSSVESSNKG KVQSKLHNTV 1030 1040 1050 1060 1070 1080 SSLAATFGSK LGQQINVSKK GTIYIGKRRG RKPKTVLNGL LSGSPASLAV LEKTAQQAAG 1090 1100 1110 1120 1130 1140 SALGQILPPL LPSPVSSSEI LPSPICSQSS GTSGGQSPVS SDAGFVEPSS VPYLHVHSRQ 1150 1160 1170 1180 1190 1200 GSMIQTLAMK KASKGRRRLS PPTLLPNSPS HLSELTSLKE ATPSPVSESH SDETIPSDSG 1210 1220 1230 1240 1250 1260 IGTDNNSTSD RAEKFCGQKK RRHSFEHISL IPPETSTVLN SLKEKHKHKC KRRSHDYLSY 1270 1280 1290 1300 1310 1320 DKMKRQKRKR KKKYPQLRNR QDPDFIAELE ELISRLSEIR ITHRSHHFIP RDLLPTIFRI 1330 1340 1350 1360 1370 1380 NFNSFYTHPS FPLDPLHYIR KPDLKKKRGR PPKMREAMAE MPFMHSLSFP LSSTGFYPSY 1390 1400 1410 1420 1430 1440 GMPYSPSPLT AAPIGLGYYG RYPPTLYPPP PSPSFTTPLP PPSYMHAGHL LLNPTKYHKK 1450 1460 1470 1480 1490 1500 KHKLLRQEAF LTTSRTPLLS MSTYPSVPPE MAYGWMVEHK HRHRHKHREH RSEQPQVSMD 1510 1520 1530 1540 1550 1560 SGSSRSVLES LKRYRFGKDT VGDRYKHKEK HRCHMSCPHL SPSKNLINRE EQWVSREPSE 1570 1580 1590 1600 1610 1620 SSSLALGLQT PLQIDCSESS PSLSLGGFTP NSEPASSDEH MNLFTSAIGS CRVSNPNSSC 1630 1640 1650 1660 1670 1680 RKKLTDSPGL FPVQDTALNR PHRKEPLPSS ERAIQSLAGS QSASDKPSQR SSESTNCSPT 1690 1700 1710 1720 1730 1740 RKRSSSESTS STVNGVPSRS PRLVASMDDS VDSLLQRIVH HDEQESMEKN GDASITTVSA 1750 1760 1770 1780 1790 1800 PPSSSPGHSY SKERALGKSD SLLVPAVPND SCSNIPLLSE KSASRCSPHH IKRSVVEAMQ 1810 1820 1830 1840 1850 1860 RQARKMCNYD KILATKKNLD HVNKILKAKK LQRQARTGNN FVKRRPGRPR KCPLQAVVSM 1870 1880 1890 1900 1910 1920 QAFQAAQFVS PELNEGEDMS LHLSPDTVTD VIEAVVQSVN LTSEHKKGVK RKNWLLEEQT 1930 1940 1950 1960 1970 1980 RKKQKTVPEE EEQENNKSFI ETPVEIPSPL ETPAEPSEPE NTLQPVLALI PREKKAPRPP 1990 2000 2010 2020 2030 2040 KKKYQRAGLY SDVSKTIDPK SRLIQLKKEK LEYTPGEHEY GLFPAPIHVG KYLRQKRIDF 2050 2060 2070 2080 2090 2100 QLPYDILWQW KHNQLYKKPD VPLYKKIRSN VYVDVKPLSG YEATTCNCKK PDDDTRKGCG 2110 2120 2130 2140 2150 2160 DDCLNRMIFA ECSPNTCPCG EQCCNQRIQR HEWVQCLERF RAEEKGWGIR TKEPLKAGQF 2170 2180 2190 2200 2210 2220 IIEYLGEVVS EQEFRNRMIE QYHNHSDHYC LNLDSGMVID SYRMGNEARF INHSCDPNCE 2230 2240 2250 2260 2270 2280 MQKWSVNGVY RIGLYALKDM PAGTELTYDY NFHSFNVEKQ QLCKCGFEKC RGIIGGKSQR 2290 2300 2310 2320 2330 2340 MNGLPSHKGS QSSSTHRKSA RAKEKRKSKH KLKKRKGHPS EEPSENINTP TRLTPQLQMK 2350 2360 2370 2380 2390 2400 PMSNRERNFV LKHHVFLVRN WEKIHQKQEE VKHTRDIHSA SLYTRWNGLC RDDGNIKSDV 2410 2420 2430 2440 2450 2460 FMTQFSALQT ARSVRTRRLA AAEENLEVAR AARLAQIFKE ICDGIISYRD SSQQTLAAPL 2470 2480 2490 2500 2510 2520 LNLPPKKKNA DYYEKISDPL DLSTIEKQIL IGYYKTVEAF DADMLKVFRN AEKYYGRKSP 2530 2540 2550 2560 2570 2580 IGRDVCRLRK AYYSARHEAS AQIDEIVGET ASEADSSETS VSEKESGHEK DDDVIRCICG 2590 2600 2610 2620 2630 2640 LYKDEGLMIQ CDKCMVWQHC DCMGVNTDVE HYLCEQCDPR PVDREVPMIP RPHYAQPGCV 2650 2660 2670 2680 2690 2700 YFICLLRDDL LLRQGHCVYL MRDSRRTPDG HPVRQSYRLL SHINRDKLDI FRIEKLWKNE 2710 2720 2730 2740 2750 2760 KEERFAFGHH YFRPHETHHS PSRRFYHNEL FRVPLYEIIP LEAVVGTCCV LDLYTYCKGR 2770 2780 2790 2800 2810 2820 PKGIKEQDVY ICDYRLDKSA HLFYKIHRNR YPVCTKPYAF DHFPKKLTPK RDFSPHYVPD 2830 2840 2850 2860 2870 2880 NYKRNGGRSS WKSERSKPPL KDLGQEDDAL PLIEEVLASQ EQAAREVPSP EEPDQERATG 2890 2900 2910 2920 2930 2940 DIGDAEKKPE ESSQEAQLAS TPEERRHSQR ERLNQILLNL LEKIPGKNAI DVTYLLEEGS 2950 GRKLRRRTLF IPENSFRK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y. Science 309:1559-1563(2005) [PubMed: 16141072] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-2005 AND 2048-2465. Strain: C57BL/6J and NOD. Tissue: Embryo, Testis and Thymus.
[2]	Lubec G., Sunyer B., Chen W.-Q. Submitted (JAN-2009) to UniProtKB Cited for: PROTEIN SEQUENCE OF 88-94; 1254-1265; 1730-1752 AND 2270-2277, MASS SPECTROMETRY. Strain: OF1. Tissue: Hippocampus.
[3]	"A novel SWI/SNF family gene in mammals reveals a bromodomain lost in Drosophila ASH1." Tanaka Y. Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 290-2958. Tissue: Thymus.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1996-2958. Tissue: Limb.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AK033177 mRNA. Translation: BAC28183.2. AK034679 mRNA. Translation: BAC28795.2. AK088497 mRNA. Translation: BAC40390.1. AK153783 mRNA. Translation: BAE32182.1. Different initiation. AF247132 mRNA. Translation: AAK26242.1. Sequence problems. BC052194 mRNA. Translation: AAH52194.1.
IPI	IPI00553465.
RefSeq	NP_619620.3.
UniGene	Mm.130752
3D structure databases
HSSP	HSSP built from PDB template 1PEG based on UniProtKB Q8X225.
ModBase	Search...
PTM databases
PhosphoSite	Q99MY8.
Proteomic databases
PRIDE	Q99MY8.
Genome annotation databases
Ensembl	ENSMUST00000090933; ENSMUSP00000088451; ENSMUSG00000028053; Mus musculus. [Genome view]
GeneID	192195.
KEGG	mmu:192195.
UCSC	uc008pxj.1. mouse.
Organism-specific databases
CTD	192195.
MGI	MGI:2183158. Ash1l.
Phylogenomic databases
HOVERGEN	Q99MY8.
Enzyme and pathway databases
BRENDA	2.1.1.43. 244.
Gene expression databases
ArrayExpress	Q99MY8.
Bgee	Q99MY8.
Genevestigator	Q99MY8.
GermOnline	ENSMUSG00000028053. Mus musculus.
Family and domain databases
InterPro	IPR017956. AT_hook_DNA-bd_motif. IPR006560. AWS. IPR001025. BAH. IPR001487. Bromodomain. IPR018359. Bromodomain_CS. IPR003616. Post-SET_Zn_bd. IPR001214. SET. IPR019786. Zinc_finger_PHD-type_CS. IPR001965. Znf_PHD. IPR019787. Znf_PHD-finger. [Graphical view]
Gene3D	G3DSA:1.20.920.10. Bromodomain. 1 hit.
Pfam	PF02178. AT_hook. 1 hit. PF01426. BAH. 1 hit. PF00439. Bromodomain. 1 hit. PF00628. PHD. 1 hit. PF00856. SET. 1 hit. [Graphical view]
SMART	SM00384. AT_hook. 4 hits. SM00570. AWS. 1 hit. SM00439. BAH. 1 hit. SM00297. BROMO. 1 hit. SM00249. PHD. 1 hit. SM00508. PostSET. 1 hit. SM00317. SET. 1 hit. [Graphical view]
PROSITE	PS51215. AWS. 1 hit. PS51038. BAH. 1 hit. PS00633. BROMODOMAIN_1. False negative. PS50014. BROMODOMAIN_2. 1 hit. PS50868. POST_SET. 1 hit. PS50280. SET. 1 hit. PS01359. ZF_PHD_1. 1 hit. PS50016. ZF_PHD_2. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	371226.
SOURCE	Search...

Entry information

Entry name

ASH1L_MOUSE

Accession

Primary (citable) accession number: Q99MY8
Secondary accession number(s): Q3U598 , Q80VY5, Q8BM69, Q8BTX0, Q8BZY6

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	October 31, 2006
Last modified:	October 13, 2009
This is version 58 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)